Elsevier

Leukemia Research

Volume 33, Issue 3, March 2009, Pages 377-383
Leukemia Research

Unbalanced whole-arm translocation der(5;19)(p10;q10) is a novel and recurrent cytogenetic aberration in myelodysplastic syndrome

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Abstract

We describe here two cases of myelodysplastic syndrome (MDS) with a novel unbalanced translocation der(5;19)(p10;q10). Both patients had complex karyotypes including der(5;19) accompanied by an extra chromosome 19, resulting in deletion of the whole long arm of chromosome 5. Furthermore, these patients presented several common clinical and hematological characteristics: MDS subtypes as refractory anemia with excess of blasts (RAEB)-1 or RAEB-2, marked anemia and thrombocytopenia without neutropenia, leukoerythroblastosis, trilineage dysplasia with prominent dyserythropoiesis, CD7 expression in blasts, and association with abnormalities of chromosomes 6, 17 and 18. These findings indicate that der(5;19)(p10;q10) may play a crucial role in the pathogenesis of high-risk MDS as a rare but recurrent translocation.

Introduction

Myelodysplastic syndrome (MDS) is a clonal hematopoietic stem cell disorder characterized by ineffective hematopoiesis that leads to bone marrow failure and/or leukemic transformation. At diagnosis, clonal cytogenetic aberrations are present in 40–70% of patients with de novo MDS and in 65–95% of patients with therapy-related MDS (t-MDS) [1], [2]. Cytogenetic findings are among the few independent variables correlated with clinical outcome in MDS, and they form the cornerstone of the International Prognostic Scoring System (IPSS) [1]. The recurring abnormalities found in MDS are usually unbalanced: total or partial chromosome losses, unbalanced translocations and chromosome gains, including del(5q)/−5, del(7q)/−7, +8, −Y, del(20q) and complex karyotypes, are commonly found [1], [2].

Several unbalanced whole-arm translocations have been reported as a recurrent and primary anomaly in hematological malignancies [3], [4]. For instance, the der(1;7)(q10;p10) has been clinically and molecularly characterized. It defines a discrete entity among myeloid neoplasms including MDS [5]. However, clinical significance of other unbalanced whole-arm translocations in MDS remains to be completely elucidated. We describe here MDS with a novel unbalanced whole-arm translocation der(5;19)(p10;q10).

Section snippets

Cytogenetic analyses

Between January 2005 and December 2007, a total of 71 MDS patients were cytogenetically analyzed in the Hematological Division of the Kobe University Hospital. Chromosome analyses were performed by the G-banding technique on unstimulated short-term culture of the cells obtained from bone marrow. At least 10 metaphase spreads were successfully examined in all cases. According to the ISCN criteria, a clonal abnormality was defined by at least two cells with the same aberration. If the abnormality

Case 1

A 64-year-old man was referred to our department because of thrombocytopenia in December 2006. Six years prior, he had been diagnosed with transitional cell carcinoma of the bladder. He received two courses of systemic chemotherapy with methotrexate, vinblastine, doxorubicin, and cisplatin. Three months previously, he was diagnosed with squamous cell carcinoma of the lung. He was treated with two cycles of chemotherapy with cisplatin and gemcitabine, but the platelet count did not recover after

Discussion

We have identified an unbalanced whole-arm translocation der(5;19)(p10;q10) in two cases of MDS. In the literature, only one case with adenocarcinoma of the large intestine has been reported to have der(5;19) as one of more than 30 cytogenetic abnormalities [3]. As a result, der(5;19) is shown to be a novel and recurrent cytogenetic aberration in MDS.

The der(5;19) was accompanied with an extra chromosome 19 in both cases. Duplication of a normal copy of one of the two chromosomes participating

Conflict of interest

None.

Acknowledgements

This work was supported in part by grants-in-aid for scientific research from the Ministry of Health, Welfare and Labor and from the Ministry of Education, Culture, Sports, Science and Technology of Japan (no. 19591113).

Contributions. Katsuya Yamamoto provided the concept and design, analyzed and interpreted the data and drafted the manuscript. Atsuo Okamura, Yoshio Katayama, Manabu Shimoyama, and Toshimitsu Matsui took care of the patients, and collected and analyzed the data. Toshimitsu

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